Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy.

INTRODUCTION: Koleen-De Vries syndrome (KDVS) is a rare genetic condition characterized by typical facial features, intellectual disability, cardiac and renal diseases, and ophthalmic manifestations. The syndrome is known to be caused by a microdeletion in the 17q21.31 region, involving multiple genes, including the KANSL1 gene. CASE PRESENTATION: We present the case of a 9-year-old boy with no family history of ophthalmic syndromes. The patient exhibited bilateral hypopigmented iris and unilateral choroidal and retinal pigment epithelium (RPE) hypopigmentation. DISCUSSION: The presence of ophthalmic manifestations, such as bilateral hypopigmented iris and unilateral choroidal and RPE hypopigmentation, in a patient with KDVS adds to the clinical spectrum of this syndrome. Although the exact mechanism underlying these ocular findings is not yet fully understood, the microdeletion in the 17q21.31 region, which includes the KANSL1 gene, is likely to play a role. CONCLUSION: This case highlights the importance of considering ophthalmic manifestations in individuals diagnosed with Koleen-De Vries syndrome. Further research is needed to better understand the pathogenesis and clinical implications of these ocular findings.

Nontraumatic Orbital Subperiosteal Hematoma in a Case of Bernard-Soulier Syndrome With Bilateral Pansinusitis.

Orbital subperiosteal hemorrhages are usually due to trauma. However, nontraumatic subperiosteal hemorrhages have also been rarely reported. Here, the authors present a 13-year-old boy with Bernard-Soulier syndrome who presented with right orbital subperiosteal hemorrhage causing optic neuropathy which was surgically drained with full visual recovery.The authors describe a case of rare coagulopathy (Bernard-Soulier syndrome) and pansinusitis presenting with nontraumatic subperiosteal hemorrhage.